[A contribution to hematomorphological sex determination: sex determination from the blood picture].
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Biological Phenomena↗
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Sex determination: sex on the brain?
Five newly identified sex-biased transcripts in Drosophila are full of surprises: although they are found in fly heads, and manipulating two of them affects mating behaviors, their genes are expressed sex-specifically in non-neural tissues. The way these genes are regulated suggests new complexities in the sex determination pathway.
Animals↗
[Sex determination, sex differentiation and sex diagnosis].
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Humans↗
Maternal-offspring conflict leads to the evolution of dominant zygotic sex determination.
Sex determination in many species involves interactions among maternally expressed genes (eg, mRNA's and proteins placed into the egg) and zygotically expressed genes. Recent studies have proposed that conflicting selective pressures can occur between maternally and zygotically expressed sex determining loci and that these may play a role in shaping the evolution of sex determining systems. Here we show that such genetic conflict occurs under very general circumstances. Whenever sex ratio among progeny in a family affects the fitness of either progeny in that family or maternal fitness, then maternal-zygotic genetic conflict occurs. Furthermore, we show that this conflict typically results in a "positive feedback loop" that leads to the evolution of a dominant zygotic sex determining locus. When males more negatively effect fitness within the family, a male heterogametic (XY male) sex determining system evolves, whereas when females more negatively effect fitness in the family, a female heterogametic (ZW female) system evolves. Individuals with the dominant sex allele are one sex, and the opposite sex is determined by maternally-expressed genes in individuals without the dominant sex allele. Results therefore suggest that maternal-zygotic conflict could play a role in the early evolution of chromosomal sex determining systems. Predictions are made concerning the patterns of expression of maternal and zygotic sex determining genes expected to result from conflict over sex determination.
Animals↗
Sex determination using sex determining region Y primers by single conventional polymerase chain reaction.
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Adult↗
Male specific expression suggests role of DMRT1 in human sex determination.
Sex determination in mammals is controlled by various transcription factors. Following the identification of SRY on the Y chromosome, several other factors have been identified. They can normally be identified as being involved in sex determination by the identification of sex reversal mutations or deletions, functional studies, and also by male-specific expression patterns in embryos. Here, it is shown that DMRT1, recently demonstrated to be deleted in 9p monosomies associated with sex reversal, is specifically expressed during sex determination in the genital ridge of human male, but not female, embryos, similar to SRY.
Female↗
No seasonal sex-ratio shift despite sex-specific fitness returns of hatching date in a lizard with genotypic sex determination.
Sex allocation theory predicts that mothers should adjust their sex-specific reproductive investment in relation to the predicted fitness returns from sons versus daughters. Sex allocation theory has proved to be successful in some invertebrate taxa but data on vertebrates often fail to show the predicted shift in sex ratio or sex-specific resource investment. This is likely to be partly explained by simplistic assumptions of vertebrate life-history and mechanistic constraints, but also because the fundamental assumption of sex-specific fitness return on investment is rarely supported by empirical data. In short-lived species, the time of hatching or parturition can have a strong impact on the age and size at maturity. Thus, if selection favors adult sexual-size dimorphism, females can maximize their fitness by adjusting offspring sex over the reproductive season. We show that in mallee dragons, Ctenophorus fordi, date of hatching is positively related to female reproductive output but has little, if any, effect on male reproductive success, suggesting selection for a seasonal shift in offspring sex ratio. We used a combination of field and laboratory data collected over two years to test if female dragons adjust their sex allocation over the season to ensure an adaptive match between time of hatching and offspring sex. Contrary to our predictions, we found no effect of laying date on sex ratio, nor did we find any evidence for within-female between-clutch sex-ratio adjustment. Furthermore, there was no differential resource investment into male and female offspring within or between clutches and sex ratios did not correlate with female condition or any partner traits. Consequently, despite evidence for selection for a seasonal sex-ratio shift, female mallee dragons do not seem to exercise any control over sex determination. The results are discussed in relation to potential constraints on sex-ratio adjustment, alternative selection pressures, and the evolution of temperature-dependent sex determination.
Adaptation, Physiological↗
Putting the heat on sex determination.
Sex determination and differentiation are inherently fascinating to both layperson and geneticist. Major advances have accelerated interest in the molecular genetic events mediating these processes in nematodes, flies, mice and humans. Far less attention has been paid to those organisms, particularly reptiles, where sex is determined by environmental cues. However, recent experimental evidence suggests that the two modes of sex determination may not only share common genetic elements, but may also be regulated by similar mechanisms. We argue that the ability to manipulate sex by temperature provides a particularly suitable model for exploring the molecular basis of this fundamental biological process.
Animals↗
Sex determination and sex chromosome evolution in the medaka, Oryzias latipes, and the platyfish, Xiphophorus maculatus.
The first vertebrate master sex-determining gene different from Sry has been very recently discovered in a small aquarium fish, the medaka (Oryzias latipes). In this fish, the X and Y chromosomes apparently differ only by a 250-kb Y-specific region containing dmrt1bY (also called DMY and dmrt1Y), a male-specific copy of the autosomal gene dmrt1. Dmrt1 is a putative transcription factor probably involved in testis formation in different vertebrate lineages. Dmrt1bY is the only gene having escaped the drastic process of degeneration that devastated the small Y-specific region of the medaka. Mutations leading to truncation or lower expression of dmrt1bY result in XY male-to-female sex reversal. Hence, both genetic and functional evidences converge in making dmrt1bY an outstanding candidate for the function of a master sex-determining gene in fish. Nevertheless, dmrt1bY could not be detected in certain other Oryzias species or in more divergent fishes. Phylogenetic analysis revealed that the duplication of the autosomal dmrt1 that formed dmrt1bY is young in evolutionary terms. Hence, dmrt1bY is not the universal master sex-determining gene in fish. Because the classical fish models, such as zebrafish and pufferfish, are not very adequate to study the basis of genetic sex determination, alternative models, such as the platyfish (Xiphophorus maculatus), are re-emerging. In this fish, which is a well-suited laboratory organism, gene loci involved in pigmentation, melanoma formation, and sexual maturity have been mapped close to the master sex-determining gene. Interestingly, the platyfish can harbor three different sex chromosomes (W, X, and Y) in certain natural populations. Bacterial artificial chromosome contigs covering the sex-determining region of the platyfish are already available, and the positional cloning of the master sex-determining gene(s) should provide new insights into sex determination and sex chromosome evolution in fish and other vertebrates.
Amino Acid Sequence↗
The value of the size of foramen magnum in sex determination.
Sex determination in unidentified skeletons is not always easily and correctly performed by a non-specialist without formal training in forensic anthropology. In explosions, warfare and other mass disasters like aircraft crashes, identification may be extremely complicated because of skeletal fragmentation. The aim of the present study was to determine whether the area of the foramen magnum was a useful criterion for the sex determination in fragmented skulls. In a total of 219 skeletons (170 males and 39 females) the longest and the shortest diameter of the foramen magnum was measured; the area within was determined using the mean of the diameters as the radius for calculation. The mean of foramen magnum area was significantly different (909.91 +/- 126.02 mm2 in males, 819.01 +/- 117.24 mm2 in females homogeneous variance, Student's t-test: 4.11 P< 0.001). However, the correlation coefficient between the areas of foramen magnum and sex was 0.27. The results confirmed that the mean foramen magnum area in females is lower than in males. However, the area of foramen magnum is not a very useful indicator for sex identification and can be used only under some circumstances as a supportive finding.
Journal Article↗
A comparative analysis of vertebrate sex determination.
Sex determination in vertebrates is controlled by a variety of mechanisms. We compared the expression of SF1, DAX1, DMRT1, SOX9 and AMH during gonadogenesis in the mouse, chicken and alligator embryo. In contrast to the expression profile of Sf1 in mouse embryos, chicken and alligator embryos show higher levels of Sf1 expression in the developing ovaries compared to testes. This may reflect the higher level of sex hormone synthesis in the ovary compared to the testis in chickens and alligators. The DAX1 gene has a similar expression profile in all three vertebrate species but appears to have different gene structure. As in mouse, DMRT1 was expressed at very high levels in the chicken and alligator male gonad. The male-specific up-regulation of SOX9 expression appears to be a common feature in all three vertebrates. In the chicken and alligator AMH is expressed prior to SOX9, suggesting that in these species SOX9 cannot initiate AMH expression as it does in mammals. SOX9 acts at multiple points in the vertebrate testis pathway but it appears that only some of these functions have been conserved through evolution.
Animals↗
Amphibian sex determination and sex reversal.
Amphibians employ a genetic mechanism of sex determination, according to all available information on sex chromosomes or breeding tests. Sex reversal allows breeding tests to establish which sex is heterogametic and provides an indication of the mechanism of sex determination. Cases of spontaneous and experimental sex reversal (by temperature, hormones or surgery) are reviewed and illustrated by previously unpublished studies on crested newts. These newts respond conventionally to temperature and hormone treatment but provide anomalous results from breeding tests. It is suggested that both the evolution from temperature dependency to a genetic switch and from ZZ/ZW to XX/XY are superimposed on a generally uniform mechanism of sex determination in all vertebrates.
Amphibians↗
achaete-scute feminizing activities and Drosophila sex determination.
Sex determination in Drosophila depends on X-linked 'numerator' genes activating early Sex-lethal (Sxl) transcription in females. One numerator gene, sisterless-b (sis-b), corresponds to the achaete-scute (AS-C) T4 basic-helix-loop-helix (bHLH) gene. Two other closely related AS-C bHLH genes, T3 and T5, appear not to function as numerator elements. We analyzed endogenous AS-C expression and show that T4 is the major AS-C numerator gene because it is expressed earlier and more strongly than are T3 and T5. Only T4 expression is detectable during the early syncytial stages when Sxl state is being determined. Nevertheless, the effects of ectopic AS-C gene expression show that T3 and T5 proteins display weak but significant feminizing activities, enhancing male-lethality, and rescuing the female-lethality of sis mutations. Detailed examination of Sxl expression in rescued embryos suggests that female cells may be viable in the absence of detectable Sxl protein expression.
Animals↗
[Progress in the investigation of Avian sex determination and sex identification].
Avian sex determination is a multiple gene regulation cascade. Genes such as the Z chromosome-linked DMRT1 gene, W chromosome-linked PKCIW gene and other factors have been demonstrated to be involved in this process. In this paper, we review the recent progress in this field. The investigation of functions of sex determinate genes and methods of sexing identification in birds are also discussed.
Animals↗
Isolation and characterization of the Bactrocera oleae genes orthologous to the sex determining Sex-lethal and doublesex genes of Drosophila melanogaster.
Here we report the isolation and characterization of the olive fruit fly Bactrocera oleae genes orthologous to the Drosophila melanogaster sex-determining genes Sex-lethal (Sxl) and doublesex (dsx). Fragments of the Sxl and dsx orthologous were isolated with RT-PCR. Genomic and cDNA clones were then obtained by screening a genomic library and separate male and female cDNA adult libraries using the RT-PCR products as probes in both cases. B. oleae Sxl gene (BoSxl) expresses the same pattern of transcripts which encode for a single common polypeptide in both male and female flies. The gene shares a high degree of similarity in sequence and expression to its Ceratitis capitata orthologous and does not appear to play a key regulatory role in the sex-determining cascade. B. oleae dsx gene (Bodsx) expands in a chromosomal region of more than 50 kb, with 6 exons-5 introns, producing different sex-specific mRNAs, according to the Drosophila model. The cDNA sequences are almost identical to the gene orthologous of Bactrocera tryoni. Four repeat elements identical to the D. melanogaster TRA/TRA-2 binding sites have been found in the untranslated region of the female-specific exon 4, predicting a common regulatory splicing mechanism in all studied species of Diptera.
Amino Acid Sequence↗
Sex determination and sex reversal: genotype, phenotype, dogma and semantics.
The genetic terminology of sex determination and sex differentiation is examined in relation to its underlying biological basis. On the assumption that the function of the testis is to produce hormones and spermatozoa, the hypothesis of a single Y-chromosomal testis-determining gene with a dominant effect is shown to run counter to the following observed facts: a lowering in testosterone levels and an increase in the incidence of undescended testes, in addition to sterility, in males with multiple X chromosomes; abnormalities of the testes in autosomal trisomies; phenotypic abnormalities of XX males apparently increasing with decreasing amounts of Y-chromosomal material; the occurrence of patients with gonadal dysgenesis and XY males with ambiguous genitalia in the same sibship; the occurrence of identical SRY mutations in patients with gonadal dysgenesis and fertile males in the same pedigree; and the development of XY female and hermaphrodite mice having the same genetic constitution. The role of X inactivation in the production of males, females and hermaphrodites in T(X;16)16H mice has previously been suggested but not unequivocally demonstrated; moreover, X inactivation cannot account for the observed bilateral asymmetry of gonadal differentiation in XY hermaphrodites in humans and mice. There is evidence for a delay in development of the supporting cells in XY mice with ovarian formation. Once testicular differentiation and male hormone secretion have begun, other Y-chromosomal genes are required to maintain spermatogenesis and to complete spermiogenesis, but these genes do not function effectively in the presence of more than one X chromosome. The impairment of spermatogenesis by many other chromosome abnormalities seems to be more severe than that of oogenesis. It is concluded that the notion of a single testis-determining gene being responsible for male sex differentiation lacks biological validity, and that the genotype of a functional, i.e. fertile, male differs from that of a functional female by the presence of multiple Y-chromosomal genes in association with but a single X chromosome. Male sex differentiation in XY individuals can be further impaired by a euploid, but inappropriate, genetic background. The genes involved in testis development may function as growth regulators in the tissues in which they are active.
Animals↗
Evaluating the accuracy and precision of cranial morphological traits for sex determination.
Sex determination is a key analysis that forensic anthropologists perform in order to construct a biological profile of human remains. The techniques used in forensic investigations must meet the Mohan or Daubert criteria, for admissibility in a court of law. In this study, the precision and accuracy of 21 morphological characteristics of the skull were tested on a modern sample of 50 adult crania of European White ancestry. The following craniofacial features are identified as high-quality traits, defined by intraobserver error or=80%: mastoid size, supraorbital ridge size, general size and architecture, rugosity of the zygomatic extension, size and shape of the nasal aperture, and gonial angle. Ninety-six percent accuracy and 92% precision were achieved using 20 traits in combination. Fisher's exact probability tests revealed no significant differences (p=0.05) in the levels of precision or accuracy between age categories. Sex-related bias in accuracy was found for the following cranial features: ramus symphysis (p=0.009), zygomatic extension (p=0.0016), and occipital markings (p=0.0013). These traits demonstrated a greater tendency to be scored male than female.
Adult↗
Sex determination and sex reversal.
Sex determination in mammals is based on a genetic cascade that controls the fate of the gonads. Gonads will then direct the establishment of phenotypic sex through the production of hormones. Different types of sex reversal are expected to occur if mutations disrupt one of the three steps of gonadal differentiation: formation of the gonadal primordia, sex determination, and testis or ovary development.
Animals↗